11 results on '"Arroyo, Maria"'
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2. Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion
3. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
4. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
5. Homozygous Deletion of an EGR2 Enhancer in Congenital Amyelinating Neuropathy
6. A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes
7. Effect of Antisecretory Drugs and Nitrates on the Risk of Ulcer Bleeding Associated With Nonsteroidal Anti-Inflammatory Drugs, Antiplatelet Agents, and Anticoagulants
8. Mechanism of vascular smooth muscle cells activation by hydrogen peroxide: role of phospholipase C gamma
9. Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene
10. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33
11. Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21)(q26;q22.1) by FISH
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